Literature associating JAGN1 and severe congenital neutropenia 5
Jagunal homolog 1 (Drosophila); Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Required for vesicle-mediated transport; it is however unclear whether it is involved in early secretory pathway or intracellular protein transport. Acts as a regulator of neutrophil function, probably via its role in vesicle-mediated transport: required for defense against fungal pathogens and for granulocyte colony-stimulating factor (GM-CSF) signaling pathway; possibly by regulating glycosylation and/or targeting of proteins contributing to the viability and migration of neutrophils; Belongs to the jagunal family.
Synonyms: JAGN1, JAGN1p, hJAGN1, Q8N5M9, FLJ14602 ...